A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990355



Internal ID12633376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151365451..151400451hg38UCSC Ensembl
Innerchr1:151337927..151372927hg19UCSC Ensembl
Innerchr1:149604551..149639551hg18UCSC Ensembl
Innerchr1:148151000..148186000hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3835001
hg1935001
hg1835001
hg1735001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34461
Supporting Variants
SamplesNA18537
Known GenesPSMB4, SELENBP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990355
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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